Kaplan JC - Search Results

1

Beta-sarcoglycan: genomic analysis and identification of a novel missense mutation in the LGMD2E Amish isolate.

Duclos F, Broux O, Bourg N, Straub V, Feldman GL, Sunada Y, Lim LE, Piccolo F, Cutshall S, Gary F, Quetier F, Kaplan JC, Jackson CE, Beckmann JS, Campbell KP. Duclos F, et al. Among authors: kaplan jc. Neuromuscul Disord. 1998 Feb;8(1):30-8. doi: 10.1016/s0960-8966(97)00135-1. Neuromuscul Disord. 1998. PMID: 9565988

2

Expression of dystrophin-associated proteins in dystrophin-positive muscle fibers (revertants) in Duchenne muscular dystrophy.

Matsumura K, Tomé FM, Collin H, Leturcq F, Jeanpierre M, Kaplan JC, Fardeau M, Campbell KP. Matsumura K, et al. Among authors: kaplan jc. Neuromuscul Disord. 1994 Mar;4(2):115-20. doi: 10.1016/0960-8966(94)90002-7. Neuromuscul Disord. 1994. PMID: 7516752

3

The role of the dystrophin-glycoprotein complex in the molecular pathogenesis of muscular dystrophies.

Matsumura K, Ohlendieck K, Ionasescu VV, Tomé FM, Nonaka I, Burghes AH, Mora M, Kaplan JC, Fardeau M, Campbell KP. Matsumura K, et al. Among authors: kaplan jc. Neuromuscul Disord. 1993 Sep-Nov;3(5-6):533-5. doi: 10.1016/0960-8966(93)90110-6. Neuromuscul Disord. 1993. PMID: 8186706 Review.

4

Absence of gamma-sarcoglycan (35 DAG) in autosomal recessive muscular dystrophy linked to chromosome 13q12.

Jung D, Leturcq F, Sunada Y, Duclos F, Tomé FM, Moomaw C, Merlini L, Azibi K, Chaouch M, Slaughter C, Fardeau M, Kaplan JC, Campbell KP. Jung D, et al. Among authors: kaplan jc. FEBS Lett. 1996 Feb 26;381(1-2):15-20. doi: 10.1016/0014-5793(96)00056-7. FEBS Lett. 1996. PMID: 8641426 Free article.

5

From adhalinopathies to alpha-sarcoglycanopathies: an overview.

Jeanpierre M, Carrié A, Piccolo F, Leturcq F, Azibi K, De Toma C, Beldjord C, Merlini L, Voit T, Romero N, Sunada Y, Tomé FM, Fardeau M, Campbell KP, Kaplan JC. Jeanpierre M, et al. Among authors: kaplan jc. Neuromuscul Disord. 1996 Dec;6(6):463-5. doi: 10.1016/s0960-8966(96)00394-x. Neuromuscul Disord. 1996. PMID: 9027856 Review. No abstract available.

6

Deficiency of the 50K dystrophin-associated glycoprotein in severe childhood autosomal recessive muscular dystrophy.

Matsumura K, Tomé FM, Collin H, Azibi K, Chaouch M, Kaplan JC, Fardeau M, Campbell KP. Matsumura K, et al. Among authors: kaplan jc. Nature. 1992 Sep 24;359(6393):320-2. doi: 10.1038/359320a0. Nature. 1992. PMID: 1406935

7

A founder mutation in the gamma-sarcoglycan gene of gypsies possibly predating their migration out of India.

Piccolo F, Jeanpierre M, Leturcq F, Dodé C, Azibi K, Toutain A, Merlini L, Jarre L, Navarro C, Krishnamoorthy R, Tomé FM, Urtizberea JA, Beckmann JS, Campbell KP, Kaplan JC. Piccolo F, et al. Among authors: kaplan jc. Hum Mol Genet. 1996 Dec;5(12):2019-22. doi: 10.1093/hmg/5.12.2019. Hum Mol Genet. 1996. PMID: 8968757

8

A biochemical, genetic, and clinical survey of autosomal recessive limb girdle muscular dystrophies in Turkey.

Dinçer P, Leturcq F, Richard I, Piccolo F, Yalnizoglu D, de Toma C, Akçören Z, Broux O, Deburgrave N, Brenguier L, Roudaut C, Urtizberea JA, Jung D, Tan E, Jeanpierre M, Campbell KP, Kaplan JC, Beckmann JS, Topaloglu H. Dinçer P, et al. Among authors: kaplan jc. Ann Neurol. 1997 Aug;42(2):222-9. doi: 10.1002/ana.410420214. Ann Neurol. 1997. PMID: 9266733

9

Absence of alpha-sarcoglycan and novel missense mutations in the alpha-sarcoglycan gene in a young British girl with muscular dystrophy.

Quinlivan RM, Robb SA, Sewry C, Dubowitz V, Piccolo F, Kaplan JC. Quinlivan RM, et al. Among authors: kaplan jc. Dev Med Child Neurol. 1997 Nov;39(11):770-4. doi: 10.1111/j.1469-8749.1997.tb07381.x. Dev Med Child Neurol. 1997. PMID: 9393893 Free article.

10

Mild deficiency of dystrophin-associated proteins in Becker muscular dystrophy patients having in-frame deletions in the rod domain of dystrophin.

Matsumura K, Nonaka I, Tomé FM, Arahata K, Collin H, Leturcq F, Récan D, Kaplan JC, Fardeau M, Campbell KP. Matsumura K, et al. Among authors: kaplan jc. Am J Hum Genet. 1993 Aug;53(2):409-16. Am J Hum Genet. 1993. PMID: 8328458 Free PMC article.

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